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Results for "GAB2"

Variant Events: 15

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
GAB2     2-1210-003chr11:
78122733-78122733
TCintronicDe novo--Yuen2017 G
GAB2     AU1987301chr11:
77958150-77958150
CTintronicDe novo--Yuen2017 G
GAB2     AU3951302chr11:
78023783-78023783
AGintronicDe novo--Yuen2017 G
GAB2     AU3861301chr11:
77984033-77984033
GCintronicDe novo--Yuen2017 G
GAB2     1-0125-003chr11:
78019000-78019000
GAintronicDe novo--Yuen2017 G
GAB2     Chen2017:28chr11:
77938015-77938015
CGexonicDe novononsynonymous SNVNM_012296
NM_080491
c.G589C
c.G703C
p.G197R
p.G235R
7.766-Chen2017 E
GAB2     2-1736-003chr11:
78029558-78029558
TCintronicDe novo--Yuen2017 G
GAB2     1-0336-004chr11:
78003810-78003810
TCintronicDe novo--Yuen2017 G
GAB2     AU3175302chr11:
78025211-78025211
CTintronicDe novo--Yuen2017 G
GAB2     2-1277-003chr11:
77960739-77960739
TCintronicDe novo--Yuen2017 G
GAB2     Lim2017:37434chr11:
77937662-77937662
TGexonicDe novosynonymous SNVNM_012296
NM_080491
c.A942C
c.A1056C
p.P314P
p.P352P
-0.0019Lim2017 E
GAB2     AU2433303chr11:
78085288-78085288
TCintronicDe novo--Yuen2017 G
GAB2     200675414@1082034482chr11:
77938015-77938015
CGexonicDe novononsynonymous SNVNM_012296
NM_080491
c.G589C
c.G703C
p.G197R
p.G235R
7.766-Satterstrom2020 E
GAB2     Cukier2014:37994chr11:
77961261-77961261
CTexonicUnknownnonsynonymous SNVNM_012296
NM_080491
c.G448A
c.G562A
p.A150T
p.A188T
13.66-Cukier2014 E
GAB2     AU3729301chr11:
78053689-78053689
CTintronicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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